Congenital Anomalies of nervoussystem.pptx

Congenital anomalies of nervous system

1. Congenital Anomalies BETT

2. Def Congenital anomalies, also known as congenital abnormalities, congenital malformations, or birth defects, refer to structural or functional anomalies that occur during intrauterine life . These anomalies can be identified prenatally, at birth, or later in infancy.

3. Causes and Risk Factors of Congenital Anomalies 1. Genetic Factors : A minority of congenital disorders are caused by genetic abnormalities such as chromosomal abnormalities (e.g., Down syndrome) or single gene defects (e.g., cystic fibrosis). Consanguinity , where parents are related by blood, increases the prevalence of rare genetic congenital disorders and elevates the risk for neonatal and childhood death, intellectual disability, and other anomalies.

4. 2.Socioeconomic and Demographic Factors : Low-income status may indirectly contribute to the occurrence of congenital disorders, with a higher frequency observed among resource-constrained families and countries. Approximately 94% of severe congenital disorders occur in low- and middle-income countries due to factors like lack of access to sufficient nutritious foods during pregnancy.

5. Anencephaly Anencephaly  is a serious birth defect in which a baby is born without parts of the brain and skull . It is classified as a type of neural tube defect (NTD). During the formation and closure of the neural tube, which contributes to the development of the baby’s brain, skull, spinal cord, and back bones, anencephaly occurs when the upper part of the neural tube fails to close completely. This incomplete closure results in babies being born without the front part of the brain (forebrain) and the thinking and coordinating part of the brain (cerebrum), often leaving other parts of the brain uncovered by bone or skin.

6. How Many Babies are Born with Anencephaly? Researchers estimate that approximately  1 in every 4,600 babies  is born with anencephaly in the United States.

7. Causes and Prevention The specific causes of anencephaly in most infants remain unknown ; however, some cases may be attributed to genetic or chromosomal changes. Factors such as environmental exposures, maternal diet, substances consumed during pregnancy, or certain medications could also contribute to anencephaly. Adequate intake of folic acid before and during early pregnancy is crucial for preventing neural tube defects like anencephaly. The fortification of grains with folic acid has led to a  28% decline  in pregnancies affected by neural tube defects since its implementation.

8. Diagnosis Anencephaly can be diagnosed either during pregnancy through screening tests like ultrasounds or after birth when it becomes immediately apparent.

9. Treatments Unfortunately , there is currently no known cure or standard treatment for anencephaly. Most babies born with this condition will pass away shortly after birth.

10. Craniorachischisis  is a severe neural tube defect characterized by the absence of the brain and cranial vault (anencephaly) along with a contiguous bony defect of the spine ( rachischisis ). This condition results from the failure of closure of the anterior neuropore , leading to an open lesion that can extend from the cervical spine to the thoracic or even lumbosacral spine, known as craniorachischisis totalis .

11. Presentation In clinical terms, craniorachischisis presents with bulging eyes due to the absence of the frontal portion of the cranial vault, a shortened or retroflexed neck, intact cerebellum and brain stem, and always manifests as an open lesion where anencephaly is contiguous with the spinal defect. It may also be associated with other anomalies such as cleft lip and palate, omphalocele , limb defects, cyclopia , or trisomy 18. Distinguishing craniorachischisis from conditions like amniotic band syndrome or iniencephaly is essential for accurate diagnosis and management.

12. Iniencephaly   Iniencephaly is a rare and complex neural tube defect that primarily affects the head, neck, and spine of the developing fetus . It involves extreme retroflexion of the head, where the head is tilted upwards with an upward-looking face due to fusion of the cervical and thoracic vertebrae. This condition is often associated with a short or absent neck, along with abnormalities such as occipital encephalocele . The cranium is typically closed and covered in skin, giving the appearance that the skin of the face connects directly to the chest and the skin of the scalp connects to the back. While the spine is usually closed, there may be instances where it is open at the cervical spine.

13. Causes:   The exact cause of iniencephaly remains unknown; however, it is believed to result from a combination of genetic and environmental factors. Chromosomal abnormalities like monosomy X and trisomy 13/18 have been associated with some cases. Environmental factors such as a history of neural tube defects in previous pregnancies may also increase the risk.

14. Prevention and Treatment:  There is no specific treatment for iniencephaly , and most affected babies do not survive beyond birth. Prevention strategies focus on taking folic acid before and during pregnancy to reduce the risk of neural tube defects like iniencephaly . Early identification through prenatal screening allows for appropriate counseling and care planning for families.

15. Encephalocele Encephalocele is a rare type of birth defect of the neural tube that affects the brain. It occurs when the neural tube, which forms the brain and spinal cord during early pregnancy, does not close completely. This results in a sac-like protrusion of brain tissue and membranes through an opening in the skull. Encephaloceles can occur anywhere along the center of the skull, most commonly at the back of the head, top of the head, or between the forehead and nose.

16. Causes of Encephalocele The exact cause of encephalocele is not fully understood, but there are believed to be genetic factors involved. It often occurs in families with a history of other neural tube defects like spina bifida and anencephaly. Some researchers also suggest that certain environmental exposures before or during pregnancy may contribute to encephalocele development.

17. Diagnosis Encephaloceles are typically detected shortly after birth; however, smaller ones in specific locations may go unnoticed initially. Signs indicating an encephalocele include fluid buildup in the brain, muscle weakness, small head size, developmental delays, intellectual disability, vision problems, delayed growth, and seizures.

18. Treatment Surgical intervention is the primary treatment for encephalocele . The surgery aims to reposition the protruding brain tissue and close the skull opening. Despite surgical correction, neurological issues associated with encephalocele may persist. Long-term management varies based on individual cases and may involve multiple surgeries depending on the extent and location of the defect.

19. Gastroschisis  is a birth defect that occurs during pregnancy, where a hole in the abdominal wall beside the belly button allows the baby’s intestines to protrude outside of the body. This condition typically presents early in pregnancy, with the opening usually located to the right side of the belly button. In more severe cases, other organs like the stomach and liver may also be found outside of the baby’s body. The exposed intestines are not protected by a sac and can be affected by amniotic fluid, leading to potential complications such as irritation, shortening, twisting, or swelling.

20. Causes and Risk Factors The exact causes of gastroschisis remain largely unknown; however, it is believed to result from a combination of genetic factors and environmental influences during pregnancy. Factors such as maternal exposure to certain substances, infections (particularly genitourinary infections), diet, and medications used during pregnancy may play a role in the development of this birth defect.

21. Diagnosis Gastroschisis can be diagnosed either during pregnancy or after birth. Prenatal screening tests like ultrasounds can detect this condition by visualizing the baby’s abdominal organs outside of the body. Early diagnosis is crucial for planning appropriate medical care for both mother and baby.

22. Treatments Treatment for gastroschisis involves surgical intervention soon after birth to place the abdominal organs back inside the baby’s body and repair the abdominal wall defect. The approach to surgery varies depending on the size and complexity of the defect; smaller defects may be repaired immediately after birth, while larger defects may require staged repairs over time. Infants with gastroschisis often require additional support such as IV nutrition, antibiotics to prevent infections, and careful monitoring post-surgery.

23. Omphalocele , also known as exomphalos , is a birth defect of the abdominal wall where an infant’s intestines, liver, or other organs protrude outside of the belly through the belly button. This occurs when the intestines fail to return to the abdomen during weeks six through ten of pregnancy . The organs are covered by a thin, nearly transparent sac that is usually intact.

24. The size of an omphalocele can vary, with some cases involving only a portion of the intestines outside the body while others may have multiple organs exposed. Due to this condition, babies born with omphalocele can face additional complications such as underdeveloped abdominal cavities, infection risks if the sac ruptures, and potential damage to organs due to compromised blood flow.

25. Causes and Risk Factors The exact causes of omphalocele are not entirely understood; however, it can be associated with genetic factors or changes in chromosomes . Environmental factors such as maternal exposure to certain substances like alcohol, tobacco, or specific medications during pregnancy can also contribute to the development of omphalocele .

26. Diagnosis and Treatment Omphaloceles can be diagnosed either during pregnancy through prenatal screening tests like ultrasounds or after birth when the protruding organs are visible. Treatment for omphalocele depends on various factors including the size of the defect, presence of other birth defects or chromosomal abnormalities, and the baby’s gestational age. In cases where the omphalocele is small, surgery is typically performed soon after birth to place the organs back into the abdomen and close the opening. For larger omphaloceles involving multiple organs outside the body, repairs may be done gradually in stages by covering the exposed organs with a special material until they can be relocated back into the abdomen.

27. Biliary atresia is a rare and serious condition that affects infants, characterized by the absence or malformation of the bile ducts inside and outside the liver. This results in a blockage of bile flow from the liver to the intestines, leading to the accumulation of bile in the liver and subsequent damage.

28. symptoms typically appear within the first few months of life. Jaundice (yellowing of skin and eyes) is often one of the earliest signs. Other symptoms include pale stools (due to lack of bile), dark urine (from bilirubin excretion), slow growth, weight loss, irritability, and enlarged spleen. If left untreated, this condition can lead to severe liver damage (cirrhosis) and eventually failure.

29. Diagnosis Physical exam: A doctor will check for an enlarged liver and other signs consistent with this condition; Blood tests: These can help determine if there are any issues with liver function; Imaging studies: Ultrasound or MRI scans can provide information about structures within and around the liver; Liver biopsy: A small sample of tissue from the liver can help diagnose cirrhosis or rule out other causes for jaundice; HIDA scan ( cholescintigraphy ): This test uses radioactive tracers to assess how well your baby’s gallbladder functions; if it doesn’t fill up properly after ingesting a meal containing fatty foods, it could indicate an obstruction in their bile ducts; Operative cholangiogram : During surgery, doctors insert a catheter into your baby’s common bile duct under general anesthesia to visualize its structure directly; this procedure also allows them to perform therapeutic interventions like removing stones or dilating strictures if necessary.

30. Treatments Treatment options for babies diagnosed with biliary atresia include surgical procedures designed to restore normal flow of bile from their livers into their intestines as well as eventual transplantation if necessary: Kasai procedure ( hepatoportoenterostomy ): This surgery aims to create an alternative pathway for bile flow from your baby’s damaged ducts into their small intestine using healthy portions still present outside their livers; it has higher success rates when performed before 8 weeks old but may not cure this condition entirely; some children still require transplants later on due to complications such as recurring scarring within their remaining ducts; Liver transplantation: When all other treatment options fail or when your baby experiences severe complications despite having undergone multiple surgeries like Kasai procedures, they might need a full organ transplantation from a donor source – either living donors (related individuals) or deceased donors – depending on availability and medical urgency; these procedures carry significant risks but have improved significantly over time thanks to advancements in surgical techniques and postoperative care protocols